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Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility.
Published in:
Oncogene, 2011, v. 30, n. 10, p. 1159, doi. 10.1038/onc.2010.497
By:
- Preston, R S;
- Philp, A;
- Claessens, T;
- Gijezen, L;
- Dydensborg, A B;
- Dunlop, E A;
- Harper, K T;
- Brinkhuizen, T;
- Menko, F H;
- Davies, D M;
- Land, S C;
- Pause, A;
- Baar, K;
- van Steensel, M A M;
- Tee, A R
Publication type:
Article
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
Published in:
Clinical Genetics, 2011, v. 80, n. 3, p. 243, doi. 10.1111/j.1399-0004.2011.01635.x
By:
- Johannesma, P. C.;
- van der Klift, H. M.;
- van Grieken, N. C. T.;
- Troost, D.;
- te Riele, H.;
- Jacobs, M. A. J. M.;
- Postma, T. J.;
- Heideman, D. A. M.;
- Tops, C. M. J.;
- Wijnen, J. T.;
- Menko, F. H.
Publication type:
Article
Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results.
Published in:
Clinical Genetics, 2011, v. 79, n. 3, p. 207, doi. 10.1111/j.1399-0004.2010.01581.x
By:
- Vos, J.;
- Oosterwijk, J. C.;
- Gómez-García, E.;
- Menko, F. H.;
- Jansen, A. M.;
- Stoel, R. D.;
- van Asperen, C. J.;
- Tibben, A.;
- Stiggelbout, A. M.
Publication type:
Article
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Published in:
Clinical Genetics, 2011, v. 79, n. 1, p. 49, doi. 10.1111/j.1399-0004.2010.01486.x
By:
- Smit, D. L.;
- Mensenkamp, A. R.;
- Badeloe, S.;
- Breuning, M. H.;
- Simon, M. E. H.;
- Van Spaendonck, K. Y.;
- Aalfs, C. M.;
- Post, J. G.;
- Shanley, S.;
- Krapels, I. P. C.;
- Hoefsloot, L. H.;
- Van Moorselaar, R. J. A.;
- Starink, T. M.;
- Bayley, J.-P.;
- Frank, J.;
- Van Steensel, M. A. M.;
- Menko, F. H.
Publication type:
Article
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
Published in:
Clinical Genetics, 2008, v. 74, n. 2, p. 145, doi. 10.1111/j.1399-0004.2008.01026.x
By:
- Menko, F. H.;
- Kneepkens, C. M. F.;
- De Leeuw, N.;
- Peeters, E. A. J.;
- Van Maldergem, L.;
- Kamsteeg, E. J.;
- Davidson, R.;
- Rozendaal, L.;
- Lasham, C. A.;
- Peeters-Scholte, C. M. P.;
- Jansweijer, M. C.;
- Hilhorst-Hofstee, Y.;
- Gille, J. J. P.;
- Heins, Y. M.;
- Nieuwint, A. W. M.;
- Sistermans, E. A.
Publication type:
Article
Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.
Published in:
Clinical Genetics, 2007, v. 72, n. 6, p. 568, doi. 10.1111/j.1399-0004.2007.00907.x
By:
- de Leng, W. W. J.;
- Jansen, M.;
- Carvalho, R.;
- Polak, M.;
- Musler, A. R.;
- Milne, A. N. A.;
- Keller, J. J.;
- Menko, F. H.;
- de Rooij, F. W. M.;
- Iacobuzio-Donahue, C. A.;
- Giardiello, F. M.;
- Weterman, M. A. J.;
- Offerhaus, G. J. A.
Publication type:
Article
The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC).
Published in:
International Journal of Cancer, 1996, v. 65, n. 4, p. 422, doi. 10.1002/(SICI)1097-0215(19960208)65:4<422::AID-IJC4>3.0.CO;2-Z
By:
- Vasen, H. F. A.;
- Sanders, E. A. C. M.;
- Taal, B. G.;
- Nagengast, F. M.;
- Griffioen, G.;
- Menko, F. H.;
- Kleibeuker, J. H.;
- Houwing-Duistermaat, J. J.;
- Meera Khan, P.
Publication type:
Article
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
Published in:
2011
By:
- Houweling, A C;
- Gijezen, L M;
- Jonker, M A;
- van Doorn, M B A;
- Oldenburg, R A;
- van Spaendonck-Zwarts, K Y;
- Leter, E M;
- van Os, T A;
- van Grieken, N C T;
- Jaspars, E H;
- de Jong, M M;
- Bongers, E M H F;
- Johannesma, P C;
- Postmus, P E;
- van Moorselaar, R J A;
- van Waesberghe, J-Htm;
- Starink, T M;
- van Steensel, M A M;
- Gille, J J P;
- Menko, F H
Publication type:
journal article
Highly variable clinical manifestations in a large family with a novel GATA2 mutation.
Published in:
Leukemia (08876924), 2013, v. 27, n. 11, p. 2247, doi. 10.1038/leu.2013.105
By:
- Mutsaers, P G N J;
- van de Loosdrecht, A A;
- Tawana, K;
- Bödör, C;
- Fitzgibbon, J;
- Menko, F H
Publication type:
Article
Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 579, doi. 10.1007/s10689-024-00408-w
By:
- van Riel, L.;
- Kets, C. M.;
- van Hest, L. P.;
- Menko, F. H.;
- Boerrigter, B. G.;
- Franken, S. M.;
- Wolthuis, R. M.F.;
- Dubbink, H. J.;
- Zondervan, P. J.;
- van Moorselaar, R. J.A.;
- Houweling, A. C.;
- van de Beek, I.
Publication type:
Article
Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition.
Published in:
Histopathology, 2003, v. 43, n. 1, p. 26, doi. 10.1046/j.1365-2559.2003.01654.x
By:
- Piek, J M J;
- Verheijen, R H M;
- Menko, F H;
- Jongsma, A P M;
- Weegenaar, J;
- Gille, J J P;
- Pals, G;
- Kenemans, P;
- van Diest, P J
Publication type:
Article
Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome.
Published in:
2014
By:
- Johannesma, P. C.;
- van Moorselaar, R. J. A.;
- Horenblas, S.;
- van der Kolk, L. E.;
- Thunnissen, E.;
- van Waesberghe, J. H. T. M.;
- Menko, F. H.;
- Postmus, P. E.
Publication type:
Case Study
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
Published in:
2002
By:
- Gille, J.J.P.;
- Hogervorst, F.B.L.;
- Pals, G;
- Wijnen, J Th;
- van Schooten, R J;
- Dommering, C J;
- Meijer, G A;
- Craanen, M E;
- Nederlof, P M;
- de Jong, D;
- McElgunn, C J;
- Schouten, J P;
- Menko, F H
Publication type:
journal article

Found: 13